Variant report

Variant	esv3390858
Chromosome Location	chr14:55379611-55380047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55368884..55370966-chr14:55378226..55380092,2	K562	blood:
2	chr14:55368284..55370170-chr14:55376140..55380944,4	MCF-7	breast:
3	chr14:55368257..55371585-chr14:55378577..55382650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576084537	chr14:55379679-55379680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576941840	chr14:55379721-55379722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112843283	chr14:55379756-55379757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373723841	chr14:55379784-55379785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143370194	chr14:55379788-55379789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146617698	chr14:55379818-55379819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368804174	chr14:55379833-55379834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541361006	chr14:55379875-55379876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559642220	chr14:55379880-55379881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536285333	chr14:55379901-55379902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116368058	chr14:55379933-55379934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369748319	chr14:55379934-55379935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11626396	chr14:55379945-55379946	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563675835	chr14:55379948-55379949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531011159	chr14:55379955-55379956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566709309	chr14:55379993-55379994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552320686	chr14:55380004-55380005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570840468	chr14:55380009-55380010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55370600-55388600	Weak transcription	HepG2	liver

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